Co-occurrence of sickle cell disease and oculocutaneous albinism in a Congolese patient: a case report

Mbiya, Benoît Mukinayi; Kalenda, John Mpoyi; Kalenda, Didier Kalombo; Tumba, Ghislain Disashi; Gulbis, Béatrice

doi:10.1186/s13256-021-03214-5

Cited by 3 publications

(2 citation statements)

References 28 publications

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“…OCA2 albinism conforms to the classical autosomal recessive inheritance pattern and often occurs in people who are consanguineously married. If both spouses are heterozygous carriers, there is a 25% chance that the next generation will inherit both parents’ mutations and become patients, a 50% chance that they will become carriers, and a 25% chance that they will be completely normal [ 28 , 29 ]. In the present study, the proband inherited heterozygous mutations from each of her parents, constituting compound heterozygous mutations that were responsible for her disease.…”

Section: Resultsmentioning

confidence: 99%

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family

Wang,

Chang,

Gao

et al. 2024

Hereditas

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Background Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of light. The skin, eyebrows, hair, and other body hair are white or yellowish-white. These conditions are caused by mutations in specific genes necessary for the production of melanin. OCA is divided into eight clinical types (OCA1-8), each with different clinical phenotypes and potential genetic factors. This study aimed to identify the genetic causes of non-syndromic OCA in a Chinese Han family. Methods We performed a comprehensive clinical examination of family members, screened for mutation loci using whole exome sequencing (WES) technology, and predicted mutations using In silico tools. Results The patient’s clinical manifestations were white skin, yellow hair, a few freckles on the cheeks and bridge of the nose, decreased vision, blue iris, poorly defined optic disk borders, pigmentation of the fundus being insufficient, and significant vascular exposure. The WES test results indicate that the patient has compound heterozygous mutations in the OCA2 gene (c.1258G > A (p.G420R), c.1441G > A (p.A481T), and c.2267-2 A > C), respectively, originating from her parents. Among them, c.1258G > A (p.G420R) is a de novo mutation with pathogenic. Our analysis suggests that compound heterozygous mutations in the OCA2 gene are the primary cause of the disease in this patient. Conclusions The widespread application of next-generation sequencing technologies such as WES in clinical practice can effectively replace conventional detection methods and assist in the diagnosis of clinical diseases more quickly and accurately. The newly discovered c.1258G > A (p.G420R) mutation can update and expand the gene mutation spectrum of OCA2-type albinism.

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Section: Resultsmentioning

confidence: 99%

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family

Wang,

Chang,

Gao

et al. 2024

Hereditas

View full text Add to dashboard Cite

show abstract

“…OCA2 albinism conforms to the classical autosomal recessive inheritance pattern and often occurs in people who are consanguineously married. If both spouses are heterozygous carriers, there is a 25% chance that the next generation will inherit both parents' mutations and become patients, a 50% chance that they will become carriers, and a 25% chance that they will be completely normal [19,20] . We recommend assisted reproductive conception or prenatal testing during pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Genetic analysis of albinism caused by compound heterozygous mutation of OCA2 gene in a Chinese family

Wang,

Chang,

Gao

et al. 2023

Preprint

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Background Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of light. The skin, eyebrows, hair, and other body hair are white or yellowish-white. These conditions are caused by mutations in specific genes necessary for the production of melanin. OCA is divided into eight clinical types (OCA1-8), each with different clinical phenotypes and potential genetic factors. This study aimed to identify the genetic causes of non-syndromic oculocutaneous albinism (OCA) in a Chinese Han family. Methods We conducted a comprehensive clinical examination of the family members, screened the mutation gene sites using the whole exon sequencing (WES) technology, and verified the sites with Sanger sequencing. Results The clinical manifestations of the patient were white skin, yellow hair, freckles in the area of exposure, decreased vision, blue iris, the central fovea of the macula being underdeveloped, and the pigmentation of the fundus being insufficient. The WES test results indicate that the patient has a compound heterozygous mutation in the OCA2 gene (c.1258G>A (p.G420R), c.1441G>A (p.A481T), and c.2267-2A>C), respectively, originating from her parents. Among them, c.1258G>A (p.G420R) is a novel variant with extremely high pathogenicity. Our analysis suggests that the compound heterozygous mutation in the OCA2 gene may be the main cause of morbidity in this patient. Conclusions The widespread application of next-generation sequencing technologies such as WES in clinical practice can effectively replace conventional detection methods and assist in the diagnosis of clinical diseases more quickly and accurately. The newly discovered c.1258G>A (p.G420R) mutation can update and expand the gene mutation spectrum of OCA2-type albinism.

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Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo

Aquaron

Lasseaux

Kelekele

et al. 2022

European Journal of Medical Genetics

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Co-occurrence of sickle cell disease and oculocutaneous albinism in a Congolese patient: a case report

Cited by 3 publications

References 28 publications

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family

Genetic analysis of albinism caused by compound heterozygous mutation of OCA2 gene in a Chinese family

Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo

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